Incidental Mutation 'R1883:Tecpr1'
ID |
209245 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tecpr1
|
Ensembl Gene |
ENSMUSG00000066621 |
Gene Name |
tectonin beta-propeller repeat containing 1 |
Synonyms |
2210010N04Rik |
MMRRC Submission |
039904-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1883 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
144131260-144160433 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 144143347 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 676
(V676A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000082844
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085701]
|
AlphaFold |
Q80VP0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000085701
AA Change: V676A
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000082844 Gene: ENSMUSG00000066621 AA Change: V676A
Domain | Start | End | E-Value | Type |
TECPR
|
23 |
59 |
8.98e1 |
SMART |
DysFN
|
64 |
125 |
6.72e-24 |
SMART |
DysFC
|
137 |
170 |
1.89e-9 |
SMART |
TECPR
|
192 |
225 |
1.79e-1 |
SMART |
TECPR
|
234 |
270 |
2.5e-9 |
SMART |
TECPR
|
279 |
317 |
4.99e-9 |
SMART |
TECPR
|
326 |
361 |
2.42e-7 |
SMART |
low complexity region
|
381 |
394 |
N/A |
INTRINSIC |
PH
|
614 |
724 |
1.69e-2 |
SMART |
TECPR
|
711 |
750 |
1.88e-4 |
SMART |
TECPR
|
766 |
800 |
3.27e-4 |
SMART |
DysFN
|
821 |
882 |
2.95e-20 |
SMART |
DysFC
|
893 |
926 |
1.66e-14 |
SMART |
TECPR
|
940 |
974 |
1.69e1 |
SMART |
TECPR
|
983 |
1019 |
1.45e-5 |
SMART |
TECPR
|
1028 |
1065 |
1.51e-8 |
SMART |
TECPR
|
1074 |
1109 |
1.59e-2 |
SMART |
low complexity region
|
1125 |
1137 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130962
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137149
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147992
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153103
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153751
|
Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.8%
- 10x: 95.4%
- 20x: 93.0%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a tethering factor involved in autophagy. The encoded protein is found at autolysosomes, and is involved in targeting protein aggregates, damaged mitochondria, and bacterial pathogens for autophagy [provided by RefSeq, Nov 2012] PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired selective autophagy and abnormal response to bacterial infection in MEFs. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 89 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ano9 |
T |
C |
7: 140,682,244 (GRCm39) |
E677G |
probably benign |
Het |
Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
Bhmt1b |
T |
C |
18: 87,774,669 (GRCm39) |
L64P |
probably damaging |
Het |
Brs3 |
T |
C |
X: 56,092,449 (GRCm39) |
I311T |
probably benign |
Het |
Capn9 |
A |
G |
8: 125,338,297 (GRCm39) |
K552R |
probably benign |
Het |
Catsperg1 |
C |
T |
7: 28,881,661 (GRCm39) |
|
probably null |
Het |
Cdc16 |
A |
G |
8: 13,825,738 (GRCm39) |
N449D |
probably damaging |
Het |
Cdyl2 |
A |
T |
8: 117,321,902 (GRCm39) |
N208K |
probably damaging |
Het |
Cnot4 |
C |
T |
6: 35,055,092 (GRCm39) |
V66I |
probably damaging |
Het |
Cntn4 |
A |
G |
6: 106,656,353 (GRCm39) |
T885A |
probably benign |
Het |
Col20a1 |
C |
T |
2: 180,634,703 (GRCm39) |
T131I |
possibly damaging |
Het |
Crybg2 |
C |
A |
4: 133,801,594 (GRCm39) |
S918* |
probably null |
Het |
Dact2 |
A |
T |
17: 14,418,085 (GRCm39) |
S207T |
possibly damaging |
Het |
Dbnl |
G |
A |
11: 5,749,247 (GRCm39) |
G356E |
probably benign |
Het |
Ddx18 |
C |
A |
1: 121,495,645 (GRCm39) |
|
probably benign |
Het |
Dis3 |
A |
T |
14: 99,328,905 (GRCm39) |
H282Q |
probably benign |
Het |
Dnah3 |
T |
C |
7: 119,677,142 (GRCm39) |
D453G |
probably benign |
Het |
Dst |
T |
C |
1: 34,228,389 (GRCm39) |
V1994A |
possibly damaging |
Het |
Dusp8 |
C |
T |
7: 141,638,085 (GRCm39) |
|
probably null |
Het |
Eipr1 |
A |
T |
12: 28,816,850 (GRCm39) |
H69L |
possibly damaging |
Het |
Eml1 |
A |
G |
12: 108,429,911 (GRCm39) |
R65G |
probably damaging |
Het |
Epha7 |
C |
T |
4: 28,950,362 (GRCm39) |
H722Y |
possibly damaging |
Het |
Epyc |
A |
T |
10: 97,511,695 (GRCm39) |
K229N |
possibly damaging |
Het |
Extl1 |
A |
G |
4: 134,091,917 (GRCm39) |
I312T |
probably benign |
Het |
F13a1 |
G |
C |
13: 37,172,981 (GRCm39) |
A133G |
probably benign |
Het |
Fam185a |
G |
T |
5: 21,630,242 (GRCm39) |
C26F |
possibly damaging |
Het |
Fam186b |
T |
C |
15: 99,176,679 (GRCm39) |
N737S |
probably damaging |
Het |
Fam78b |
A |
G |
1: 166,829,171 (GRCm39) |
I13V |
probably benign |
Het |
Fat1 |
A |
T |
8: 45,504,184 (GRCm39) |
Q4559L |
probably benign |
Het |
Fnip1 |
T |
C |
11: 54,406,373 (GRCm39) |
S1157P |
probably damaging |
Het |
Foxj3 |
A |
C |
4: 119,467,226 (GRCm39) |
M190L |
probably benign |
Het |
Heatr3 |
T |
C |
8: 88,871,221 (GRCm39) |
Y192H |
possibly damaging |
Het |
Hexd |
T |
A |
11: 121,098,524 (GRCm39) |
S3T |
probably benign |
Het |
Klf3 |
C |
T |
5: 64,980,224 (GRCm39) |
P5S |
probably damaging |
Het |
Klf9 |
C |
T |
19: 23,142,101 (GRCm39) |
S187L |
probably damaging |
Het |
Krt9 |
T |
C |
11: 100,079,523 (GRCm39) |
H623R |
unknown |
Het |
Krtap2-4 |
G |
C |
11: 99,505,505 (GRCm39) |
|
probably benign |
Het |
Lmtk3 |
T |
C |
7: 45,436,273 (GRCm39) |
Y84H |
probably damaging |
Het |
Mroh3 |
G |
T |
1: 136,134,731 (GRCm39) |
A166D |
probably damaging |
Het |
Musk |
C |
A |
4: 58,373,189 (GRCm39) |
P697T |
probably benign |
Het |
Nek9 |
A |
G |
12: 85,379,330 (GRCm39) |
L192P |
probably damaging |
Het |
Nipbl |
A |
C |
15: 8,356,616 (GRCm39) |
F1590C |
probably damaging |
Het |
Nrk |
G |
T |
X: 137,907,922 (GRCm39) |
V1455F |
probably damaging |
Het |
Nsun3 |
T |
C |
16: 62,555,656 (GRCm39) |
D290G |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,969,029 (GRCm39) |
T222A |
probably damaging |
Het |
Or2a12 |
T |
C |
6: 42,904,764 (GRCm39) |
S200P |
probably damaging |
Het |
Or51f1d |
T |
C |
7: 102,701,189 (GRCm39) |
I228T |
probably benign |
Het |
Or6b9 |
T |
C |
7: 106,555,981 (GRCm39) |
H54R |
probably benign |
Het |
Osbpl11 |
T |
G |
16: 33,034,723 (GRCm39) |
H237Q |
probably benign |
Het |
Pde10a |
A |
T |
17: 9,197,776 (GRCm39) |
T671S |
possibly damaging |
Het |
Pkd2 |
A |
T |
5: 104,631,094 (GRCm39) |
N506I |
probably damaging |
Het |
Ppp3cb |
A |
G |
14: 20,573,913 (GRCm39) |
V274A |
possibly damaging |
Het |
Prex1 |
T |
C |
2: 166,425,192 (GRCm39) |
D938G |
probably benign |
Het |
Ptch1 |
G |
A |
13: 63,659,841 (GRCm39) |
Q1134* |
probably null |
Het |
Rasgrf2 |
A |
G |
13: 92,117,149 (GRCm39) |
V820A |
probably benign |
Het |
Rimbp2 |
C |
T |
5: 128,880,998 (GRCm39) |
V137M |
possibly damaging |
Het |
Rpa1 |
A |
G |
11: 75,209,309 (GRCm39) |
V137A |
probably benign |
Het |
Rps6ka1 |
A |
C |
4: 133,591,354 (GRCm39) |
I299S |
probably damaging |
Het |
Scn3b |
A |
C |
9: 40,190,669 (GRCm39) |
|
probably null |
Het |
Sdha |
A |
T |
13: 74,481,255 (GRCm39) |
I317N |
probably damaging |
Het |
Serpina1d |
T |
A |
12: 103,732,037 (GRCm39) |
D274V |
possibly damaging |
Het |
Sik3 |
C |
G |
9: 46,132,387 (GRCm39) |
H1276Q |
probably benign |
Het |
Snx14 |
T |
A |
9: 88,284,314 (GRCm39) |
E451D |
probably benign |
Het |
Spmip4 |
T |
C |
6: 50,551,433 (GRCm39) |
T339A |
probably benign |
Het |
Swt1 |
T |
A |
1: 151,299,284 (GRCm39) |
K8* |
probably null |
Het |
Tas1r3 |
G |
T |
4: 155,946,610 (GRCm39) |
P332T |
probably damaging |
Het |
Tas2r126 |
A |
T |
6: 42,411,961 (GRCm39) |
T165S |
probably benign |
Het |
Tg |
A |
G |
15: 66,543,158 (GRCm39) |
E24G |
probably damaging |
Het |
Tlr7 |
C |
T |
X: 166,089,468 (GRCm39) |
G673S |
probably benign |
Het |
Tnxb |
T |
A |
17: 34,908,539 (GRCm39) |
D1520E |
probably benign |
Het |
Trabd |
A |
G |
15: 88,966,184 (GRCm39) |
E47G |
probably damaging |
Het |
Trim29 |
T |
A |
9: 43,222,702 (GRCm39) |
I177N |
probably damaging |
Het |
Ubxn2a |
A |
T |
12: 4,944,563 (GRCm39) |
L53* |
probably null |
Het |
Ulk2 |
A |
G |
11: 61,721,438 (GRCm39) |
L208P |
probably damaging |
Het |
Unc80 |
G |
A |
1: 66,564,929 (GRCm39) |
C872Y |
possibly damaging |
Het |
Vac14 |
A |
G |
8: 111,438,319 (GRCm39) |
H644R |
probably damaging |
Het |
Vmn1r20 |
C |
A |
6: 57,409,306 (GRCm39) |
H211N |
probably benign |
Het |
Vmn1r31 |
C |
T |
6: 58,449,029 (GRCm39) |
V279I |
probably damaging |
Het |
Vmn2r18 |
G |
T |
5: 151,499,190 (GRCm39) |
Q425K |
probably benign |
Het |
Vmn2r60 |
T |
C |
7: 41,786,094 (GRCm39) |
V299A |
probably damaging |
Het |
Vps54 |
A |
T |
11: 21,262,967 (GRCm39) |
T685S |
possibly damaging |
Het |
Vwa5b1 |
A |
G |
4: 138,302,700 (GRCm39) |
W932R |
probably damaging |
Het |
Wdr53 |
A |
T |
16: 32,075,316 (GRCm39) |
I174F |
possibly damaging |
Het |
Zfp157 |
A |
G |
5: 138,443,102 (GRCm39) |
D31G |
probably damaging |
Het |
Zfp60 |
T |
C |
7: 27,449,435 (GRCm39) |
L701P |
probably benign |
Het |
Zfp609 |
A |
T |
9: 65,702,040 (GRCm39) |
M204K |
probably benign |
Het |
Zfp831 |
A |
G |
2: 174,545,870 (GRCm39) |
H1325R |
possibly damaging |
Het |
Zfp995 |
A |
T |
17: 22,099,622 (GRCm39) |
I204N |
probably benign |
Het |
Zp2 |
C |
T |
7: 119,732,624 (GRCm39) |
D641N |
probably benign |
Het |
|
Other mutations in Tecpr1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01399:Tecpr1
|
APN |
5 |
144,145,411 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01774:Tecpr1
|
APN |
5 |
144,148,358 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01960:Tecpr1
|
APN |
5 |
144,153,737 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01973:Tecpr1
|
APN |
5 |
144,134,806 (GRCm39) |
splice site |
probably benign |
|
IGL02244:Tecpr1
|
APN |
5 |
144,146,821 (GRCm39) |
missense |
probably benign |
|
IGL02247:Tecpr1
|
APN |
5 |
144,143,372 (GRCm39) |
missense |
possibly damaging |
0.64 |
IGL02423:Tecpr1
|
APN |
5 |
144,140,305 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL02679:Tecpr1
|
APN |
5 |
144,143,364 (GRCm39) |
missense |
probably benign |
0.28 |
larghissimo
|
UTSW |
5 |
144,154,075 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4531001:Tecpr1
|
UTSW |
5 |
144,150,885 (GRCm39) |
missense |
probably damaging |
0.96 |
R0121:Tecpr1
|
UTSW |
5 |
144,147,017 (GRCm39) |
missense |
probably benign |
0.02 |
R0125:Tecpr1
|
UTSW |
5 |
144,134,717 (GRCm39) |
missense |
probably damaging |
1.00 |
R0194:Tecpr1
|
UTSW |
5 |
144,155,335 (GRCm39) |
missense |
probably damaging |
1.00 |
R0376:Tecpr1
|
UTSW |
5 |
144,144,294 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0441:Tecpr1
|
UTSW |
5 |
144,132,759 (GRCm39) |
missense |
probably benign |
|
R0504:Tecpr1
|
UTSW |
5 |
144,150,899 (GRCm39) |
missense |
probably damaging |
0.99 |
R0538:Tecpr1
|
UTSW |
5 |
144,143,092 (GRCm39) |
missense |
probably damaging |
0.99 |
R0586:Tecpr1
|
UTSW |
5 |
144,154,219 (GRCm39) |
missense |
probably damaging |
1.00 |
R0607:Tecpr1
|
UTSW |
5 |
144,149,408 (GRCm39) |
missense |
probably damaging |
1.00 |
R0608:Tecpr1
|
UTSW |
5 |
144,148,317 (GRCm39) |
missense |
probably damaging |
1.00 |
R0656:Tecpr1
|
UTSW |
5 |
144,150,871 (GRCm39) |
splice site |
probably null |
|
R0835:Tecpr1
|
UTSW |
5 |
144,149,410 (GRCm39) |
missense |
possibly damaging |
0.81 |
R1080:Tecpr1
|
UTSW |
5 |
144,153,747 (GRCm39) |
missense |
probably damaging |
1.00 |
R1394:Tecpr1
|
UTSW |
5 |
144,143,357 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1597:Tecpr1
|
UTSW |
5 |
144,151,128 (GRCm39) |
missense |
probably benign |
0.00 |
R1663:Tecpr1
|
UTSW |
5 |
144,134,762 (GRCm39) |
missense |
probably benign |
0.17 |
R1785:Tecpr1
|
UTSW |
5 |
144,145,463 (GRCm39) |
missense |
probably benign |
0.01 |
R1786:Tecpr1
|
UTSW |
5 |
144,145,463 (GRCm39) |
missense |
probably benign |
0.01 |
R1833:Tecpr1
|
UTSW |
5 |
144,145,426 (GRCm39) |
missense |
probably damaging |
0.99 |
R1988:Tecpr1
|
UTSW |
5 |
144,141,515 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2130:Tecpr1
|
UTSW |
5 |
144,145,463 (GRCm39) |
missense |
probably benign |
0.01 |
R2131:Tecpr1
|
UTSW |
5 |
144,145,463 (GRCm39) |
missense |
probably benign |
0.01 |
R2132:Tecpr1
|
UTSW |
5 |
144,145,463 (GRCm39) |
missense |
probably benign |
0.01 |
R2133:Tecpr1
|
UTSW |
5 |
144,145,463 (GRCm39) |
missense |
probably benign |
0.01 |
R2172:Tecpr1
|
UTSW |
5 |
144,148,274 (GRCm39) |
missense |
probably benign |
0.10 |
R2172:Tecpr1
|
UTSW |
5 |
144,133,235 (GRCm39) |
missense |
probably damaging |
1.00 |
R2290:Tecpr1
|
UTSW |
5 |
144,150,881 (GRCm39) |
missense |
probably damaging |
0.99 |
R3691:Tecpr1
|
UTSW |
5 |
144,146,797 (GRCm39) |
missense |
probably benign |
0.10 |
R4027:Tecpr1
|
UTSW |
5 |
144,143,077 (GRCm39) |
missense |
probably benign |
0.41 |
R4587:Tecpr1
|
UTSW |
5 |
144,149,408 (GRCm39) |
missense |
probably damaging |
0.96 |
R4684:Tecpr1
|
UTSW |
5 |
144,144,255 (GRCm39) |
missense |
probably benign |
0.16 |
R4864:Tecpr1
|
UTSW |
5 |
144,150,935 (GRCm39) |
missense |
probably benign |
0.00 |
R4932:Tecpr1
|
UTSW |
5 |
144,141,476 (GRCm39) |
missense |
probably damaging |
0.97 |
R4955:Tecpr1
|
UTSW |
5 |
144,154,075 (GRCm39) |
missense |
probably damaging |
1.00 |
R5043:Tecpr1
|
UTSW |
5 |
144,134,672 (GRCm39) |
splice site |
probably null |
|
R5459:Tecpr1
|
UTSW |
5 |
144,144,234 (GRCm39) |
missense |
probably damaging |
1.00 |
R5579:Tecpr1
|
UTSW |
5 |
144,151,162 (GRCm39) |
missense |
possibly damaging |
0.55 |
R5677:Tecpr1
|
UTSW |
5 |
144,155,451 (GRCm39) |
nonsense |
probably null |
|
R5679:Tecpr1
|
UTSW |
5 |
144,144,241 (GRCm39) |
missense |
possibly damaging |
0.69 |
R5802:Tecpr1
|
UTSW |
5 |
144,143,364 (GRCm39) |
missense |
probably benign |
0.28 |
R6000:Tecpr1
|
UTSW |
5 |
144,148,239 (GRCm39) |
missense |
probably benign |
0.02 |
R6022:Tecpr1
|
UTSW |
5 |
144,136,009 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6114:Tecpr1
|
UTSW |
5 |
144,141,458 (GRCm39) |
missense |
possibly damaging |
0.81 |
R6251:Tecpr1
|
UTSW |
5 |
144,135,394 (GRCm39) |
missense |
probably damaging |
0.97 |
R6372:Tecpr1
|
UTSW |
5 |
144,153,776 (GRCm39) |
missense |
probably damaging |
1.00 |
R6493:Tecpr1
|
UTSW |
5 |
144,146,792 (GRCm39) |
missense |
probably benign |
|
R7276:Tecpr1
|
UTSW |
5 |
144,153,838 (GRCm39) |
nonsense |
probably null |
|
R7314:Tecpr1
|
UTSW |
5 |
144,154,150 (GRCm39) |
missense |
probably damaging |
1.00 |
R7375:Tecpr1
|
UTSW |
5 |
144,145,417 (GRCm39) |
missense |
possibly damaging |
0.68 |
R7632:Tecpr1
|
UTSW |
5 |
144,155,544 (GRCm39) |
missense |
probably benign |
0.03 |
R7702:Tecpr1
|
UTSW |
5 |
144,140,236 (GRCm39) |
missense |
probably damaging |
1.00 |
R8135:Tecpr1
|
UTSW |
5 |
144,135,420 (GRCm39) |
missense |
probably damaging |
0.99 |
R8406:Tecpr1
|
UTSW |
5 |
144,137,658 (GRCm39) |
missense |
probably damaging |
1.00 |
R8844:Tecpr1
|
UTSW |
5 |
144,153,117 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8856:Tecpr1
|
UTSW |
5 |
144,153,117 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8857:Tecpr1
|
UTSW |
5 |
144,153,117 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8866:Tecpr1
|
UTSW |
5 |
144,153,117 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8903:Tecpr1
|
UTSW |
5 |
144,150,845 (GRCm39) |
intron |
probably benign |
|
R8926:Tecpr1
|
UTSW |
5 |
144,153,780 (GRCm39) |
missense |
probably damaging |
1.00 |
R9218:Tecpr1
|
UTSW |
5 |
144,154,049 (GRCm39) |
missense |
possibly damaging |
0.70 |
R9423:Tecpr1
|
UTSW |
5 |
144,155,396 (GRCm39) |
missense |
probably damaging |
0.98 |
RF001:Tecpr1
|
UTSW |
5 |
144,154,204 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1176:Tecpr1
|
UTSW |
5 |
144,155,409 (GRCm39) |
missense |
probably benign |
0.28 |
|
Predicted Primers |
PCR Primer
(F):5'- GGTCAATGCTGGGCAGAATG -3'
(R):5'- CATTCAACTCCCAAAAGCGGTG -3'
Sequencing Primer
(F):5'- CAGAATGAGGCCTGGGTGC -3'
(R):5'- AATTCCGGGCTTTGCTAGACAAG -3'
|
Posted On |
2014-06-30 |